Variant report

Variant	rs10238960
Chromosome Location	chr7:70773271-70773272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr7:70773206-70773503	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
MIR3914-1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10268327	0.81[CHB][hapmap]
rs10271589	0.81[CHB][hapmap]
rs1317290	0.81[ASN][1000 genomes]
rs1317429	0.83[ASN][1000 genomes]
rs1317892	0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs17143199	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1922525	0.83[ASN][1000 genomes]
rs2091792	0.81[CHB][hapmap]
rs2107797	0.85[CHB][hapmap]
rs2527294	0.80[CHB][hapmap]
rs2707432	0.81[CHB][hapmap]
rs28664864	0.80[ASN][1000 genomes]
rs3923569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923570	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4445102	0.82[CHB][hapmap]
rs4520056	0.81[ASN][1000 genomes]
rs4719107	0.80[JPT][hapmap]
rs4719109	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719113	0.81[CHB][hapmap]
rs6460649	1.00[ASN][1000 genomes]
rs6964131	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6977328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73356099	0.93[ASN][1000 genomes]
rs7787933	0.80[CHB][hapmap]
rs7788793	0.80[CHB][hapmap]
rs9638618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9638620	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs9654908	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70765000-70775400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:70765800-70790000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:70769200-70773600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:70769600-70773600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:70772200-70773800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:70772200-70774200	Enhancers	Fetal Heart	heart
7	chr7:70772200-70774400	Enhancers	Rectal Smooth Muscle	rectum
8	chr7:70772200-70774400	Enhancers	HSMM	muscle
9	chr7:70772400-70773600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:70772400-70773600	Enhancers	Brain Anterior Caudate	brain
11	chr7:70772400-70773800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:70772400-70774400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:70772400-70774400	Enhancers	Fetal Muscle Leg	muscle
14	chr7:70772400-70774400	Enhancers	NH-A	brain
15	chr7:70772600-70773600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:70772600-70773800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:70772600-70774000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:70772800-70773400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:70772800-70773400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:70772800-70773600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:70772800-70773600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:70772800-70773600	Enhancers	Stomach Smooth Muscle	stomach
23	chr7:70772800-70773800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:70772800-70773800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr7:70772800-70773800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr7:70772800-70774000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:70772800-70774000	Enhancers	Fetal Muscle Trunk	muscle
28	chr7:70772800-70774000	Enhancers	Fetal Stomach	stomach
29	chr7:70772800-70774400	Enhancers	Ovary	ovary
30	chr7:70773000-70773400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr7:70773000-70773400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:70773000-70773400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:70773000-70773600	Enhancers	Fetal Lung	lung
34	chr7:70773000-70774400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:70773000-70774400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:70773000-70775600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:70773000-70775800	Weak transcription	Aorta	Aorta
38	chr7:70773200-70773400	Enhancers	HSMMtube	muscle
39	chr7:70773200-70773600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr7:70773200-70773800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:70773200-70774200	Enhancers	Colon Smooth Muscle	Colon
42	chr7:70773200-70774600	Enhancers	Left Ventricle	heart

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